Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nervous system (HP:0000707)help
Parent Node:
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Abnormal nervous system physiology (HP:0012638)help
..Starting node
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Neurodevelopmental abnormality (HP:0012759)help
Term ID: 12759
Name: Neurodevelopmental abnormality
Synonym:
Definition: A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.
Comments:
Reference: HP:0012759
Genes and Diseases:
 
       Child Nodes:
........expandIntellectual disability (HP:0001249) help
................... HP:0001256 Intellectual disability, mild
................... HP:0002187 Intellectual disability, profound
................... HP:0002342 Intellectual disability, moderate
................... HP:0006887 Intellectual disability, progressive
................... HP:0006889 Intellectual disability, borderline
................... HP:0010864 Intellectual disability, severe
........expandSpecific learning disability (HP:0001328) help
................... HP:0002442 Dyscalculia
................... HP:0010522 Dyslexia
................... HP:0010794 Impaired visuospatial constructive cognition
........expandDevelopmental regression (HP:0002376) help
........expandDevelopmental stagnation (HP:0007281) help
................... HP:0006834 Developmental stagnation at onset of seizures
........expandNeurodevelopmental delay (HP:0012758) help
................... HP:0000750 Delayed speech and language development
................... HP:0001263 Global developmental delay
................... HP:0001270 Motor delay
................... HP:0012434 Delayed social development

 Sister Nodes: 
..expandAbnormal brain positron emission tomography (HP:0012657) help
..expandAbnormal central motor function (HP:0011442) help
..expandAbnormal central sensory function (HP:0011730) help
..expandAbnormal hypothalamus physiology (HP:0012285) help
..expandAbnormal metabolic brain imaging by MRS (HP:0012705) help
..expandAbnormal nervous system electrophysiology (HP:0001311) help
..expandAbnormal synaptic transmission (HP:0012535) help
..expandAbnormality of higher mental function (HP:0011446) help
..expandAbnormality of intracranial pressure (HP:0012640) help
..expandAbnormality of movement (HP:0100022) help
..expandAbnormality of pineal physiology (HP:0012688) help
..expandAbnormality of taste sensation (HP:0000223) help
..expandAbnormality of the sense of smell (HP:0004408) help
..expandBehavioral abnormality (HP:0000708) help
..expandBulbar palsy (HP:0001283) help
..expandBulbar signs (HP:0002483) help
..expandCataplexy (HP:0002524) help
..expandDysphagia (HP:0002015) help
..expandEasy fatigability (HP:0003388) help
..expandEncephalopathy (HP:0001298) help
..expandHeadache (HP:0002315) help
..expandHypocalcemic tetany (HP:0003472) help
..expandPseudobulbar signs (HP:0002200) help
..expandSeizure (HP:0001250) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012759HP:0012759Neurodevelopmental abnormality0CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0012759Neurodevelopmental abnormality0CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0002376Developmental regression1CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0001249Intellectual disability1CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0001328Specific learning disability1CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0007281Developmental stagnation1CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0012758Neurodevelopmental delay1CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0002376Developmental regression1CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0001249Intellectual disability1CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0001328Specific learning disability1CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0007281Developmental stagnation1CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0012758Neurodevelopmental delay1CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0010864Intellectual disability, severe2CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0001270Motor delay2CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0001256Intellectual disability, mild2CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0010522Dyslexia2CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0002187Intellectual disability, profound2CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0010794Impaired visuospatial constructive cognition2CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0001263Global developmental delay2CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0006887Intellectual disability, progressive2CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0000750Delayed speech and language development2CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0012434Delayed social development2CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0033044Motor regression2CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0006889Intellectual disability, borderline2CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0002442Dyscalculia2CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0006834Developmental stagnation at onset of seizures2CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0002342Intellectual disability, moderate2CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0001263Global developmental delay2CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0006887Intellectual disability, progressive2CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0000750Delayed speech and language development2CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0012434Delayed social development2CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0033044Motor regression2CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0006889Intellectual disability, borderline2CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0002442Dyscalculia2CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0006834Developmental stagnation at onset of seizures2CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0002342Intellectual disability, moderate2CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0010794Impaired visuospatial constructive cognition2CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0002187Intellectual disability, profound2CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0010864Intellectual disability, severe2CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0001270Motor delay2CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0001256Intellectual disability, mild2CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0010522Dyslexia2CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0011342Mild global developmental delay3CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0012736Profound global developmental delay3CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0001344Absent speech3CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0002194Delayed gross motor development3CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0010863Receptive language delay3CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0011343Moderate global developmental delay3CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0011344Severe global developmental delay3CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0002474Expressive language delay3CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0032988Persistent head lag3CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0010862Delayed fine motor development3CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0011343Moderate global developmental delay3CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0011344Severe global developmental delay3CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0002474Expressive language delay3CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0032988Persistent head lag3CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0010862Delayed fine motor development3CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0010863Receptive language delay3CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0011342Mild global developmental delay3CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0012736Profound global developmental delay3CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0001344Absent speech3CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0002194Delayed gross motor development3CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0032989Delayed ability to roll over4CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0011350Mild receptive language delay4CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0025335Delayed ability to stand4CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0011352Severe receptive language delay4CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0033257Delayed ability to walk with support4CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0011346Mild expressive language delay4CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0006863Severe expressive language delay4CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0025336Delayed ability to sit4CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0011351Moderate receptive language delay4CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0031936Delayed ability to walk4CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0011345Moderate expressive language delay4CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0033128Delayed ability to crawl4CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0025336Delayed ability to sit4CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0011351Moderate receptive language delay4CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0031936Delayed ability to walk4CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0011345Moderate expressive language delay4CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0033128Delayed ability to crawl4CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0012759HP:0032989Delayed ability to roll over4CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0011350Mild receptive language delay4CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0025335Delayed ability to stand4CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0011352Severe receptive language delay4CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0033257Delayed ability to walk with support4CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0011346Mild expressive language delay4CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0012759HP:0006863Severe expressive language delay4CACNA1G CL E G H8913458803ORPHA13741394604065
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (2063) :AAAS AARS AASS ABAT ABCA4 ABCA7 ABCB7 ABCC8 ABCC9 ABCD4 ABHD5 ACADL ACADM ACADS ACADSB ACAN ACAT1 ACAT2 ACD ACER3 ACO2 ACOX1 ACOX2 ACP5 ACSF3 ACSL4 ACTA1 ACTA2 ACTB ACTG1 ACVR1 ACY1 ADA2 ADAM22 ADAMTS10 ADAMTS2 ADAMTS3 ADAMTSL2 ADAR ADAT3 ADCY5 ADD3 ADGRG1 ADK ADNP ADPRHL2 ADRA2B ADSL AFF2 AFF4 AFG3L2 AGA AGBL5 AGGF1 AGK AGL AGPAT2 AGRN AGTPBP1 AGTR2 AHCY AHDC1 AHI1 AHR AHSG AIFM1 AIMP1 AIMP2 AIPL1 AK9 AKT1 AKT3 ALDH18A1 ALDH3A2 ALDH4A1 ALDH5A1 ALDH6A1 ALDH7A1 ALDOA ALDOB ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG6 ALG9 ALMS1 ALOX12B ALOXE3 ALS2 ALX1 ALX3 ALX4 AMER1 AMMECR1 AMPD2 AMT ANK1 ANK3 ANKLE2 ANKRD11 ANO10 ANTXR1 AP1S1 AP1S2 AP3B1 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC APC2 APP AQP2 ARCN1 ARF1 ARFGEF2 ARG1 ARHGAP31 ARHGDIA ARHGEF18 ARHGEF2 ARHGEF6 ARHGEF9 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARNT2 ARSA ARSE ARSI ARV1 ARVCF ARX ASAH1 ASCC1 ASCL1 ASH1L ASL ASNS ASPA ASPM ASS1 ASXL1 ASXL2 ASXL3 ATAD1 ATAD3A ATCAY ATG5 ATIC ATL1 ATP1A1 ATP1A2 ATP1A3 ATP2A2 ATP2B3 ATP5F1D ATP5F1E ATP6 ATP6AP1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP7B ATP8A2 ATPAF2 ATR ATRIP ATRX ATXN3 ATXN7 AUH AUTS2 AVPR2 B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALNT1 B4GALT1 B4GALT7 B4GAT1 B9D1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCKDHA BCKDHB BCKDK BCL11A BCL11B BCOR BCR BCS1L BDNF BEST1 BICD2 BIN1 BLM BMP1 BMP2 BMP4 BMPER BMPR1B BOLA3 BPTF BRAF BRAT1 BRCA1 BRCA2 BRF1 BRIP1 BRPF1 BRWD3 BSCL2 BSND BTD BTK BUB1 BUB1B BUB3 C12ORF4 C12ORF57 C12ORF65 C19ORF12 C2CD3 C4A C8ORF37 C9ORF72 CA2 CA4 CA5A CA8 CACNA1A CACNA1C CACNA1D CACNA1E CACNA1G CACNG2 CAD CAMK2A CAMK2B CAMKMT CAMTA1 CANT1 CARS2 CASK CAV1 CAVIN1 CBL CBS CC2D1A CC2D2A CCBE1 CCDC115 CCDC174 CCDC22 CCDC47 CCDC88A CCDC88C CCND2 CCNK CCR1 CD96 CDC42 CDC45 CDC6 CDCA7 CDH11 CDH15 CDH23 CDHR1 CDK10 CDK13 CDK5 CDK5RAP2 CDK6 CDKL5 CDKN1C CDON CDT1 CENPE CENPJ CEP104 CEP120 CEP135 CEP152 CEP164 CEP19 CEP290 CEP41 CEP57 CEP63 CEP83 CERKL CERS1 CFL2 CHAMP1 CHAT CHCHD10 CHD1 CHD2 CHD3 CHD4 CHD7 CHKB CHMP1A CHMP2B CHN1 CHRNA1 CHRNA4 CHRNA7 CHRNB1 CHRND CHRNE CHST14 CHST3 CIB2 CIC CISD2 CIT CKAP2L CLCN4 CLCNKA CLCNKB CLIC2 CLIP2 CLN3 CLN5 CLN8 CLP1 CLPB CLRN1 CLTC CNGA1 CNGB1 CNKSR2 CNNM2 CNPY3 CNTN2 CNTNAP2 COA7 COA8 COASY COG1 COG2 COG4 COG5 COG6 COG7 COG8 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3BP COL5A1 COL6A1 COL6A2 COL6A3 COLEC10 COLEC11 COLQ COMT COPB2 COQ2 COQ7 COQ8A COQ9 CORO1A COX1 COX10 COX14 COX15 COX2 COX20 COX3 COX4I2 COX6B1 COX7B COX8A CP CPLANE1 CPLX1 CPS1 CRADD CRAT CRB1 CRBN CREBBP CRIPT CRKL CRLF1 CRPPA CRX CSNK2A1 CSPP1 CSTB CTBP1 CTC1 CTCF CTDP1 CTNNA2 CTNNB1 CTNND2 CTSA CTSD CUL4B CUX2 CWC27 CWF19L1 CXORF56 CYB5R3 CYFIP2 CYP24A1 CYP27A1 CYP27B1 CYP2U1 D2HGDH DACT1 DAG1 DARS DARS2 DBT DCAF17 DCC DCHS1 DCPS DCX DDB2 DDC DDHD2 DDOST DDR2 DDX11 DDX3X DDX59 DEAF1 DENND5A DEPDC5 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHDDS DHFR DHTKD1 DHX30 DHX38 DIP2B DIS3L2 DISP1 DKC1 DLAT DLD DLG3 DLL1 DLL3 DLL4 DMD DMPK DMXL2 DNA2 DNAJC12 DNAJC19 DNAJC21 DNAJC3 DNAJC6 DNAL4 DNM1 DNM1L DNM2 DNMT3A DNMT3B DOCK3 DOCK6 DOCK7 DOK7 DONSON DPAGT1 DPF2 DPH1 DPM1 DPM2 DPM3 DPP6 DPYD DPYS DSE DSG4 DUOX2 DUOXA2 DVL1 DVL3 DYM DYNC1H1 DYNC2LI1 DYRK1A EARS2 EBF3 EBP ECE1 ECHS1 EDC3 EDN1 EDN3 EDNRB EED EEF1A2 EFL1 EFNB1 EFTUD2 EGF EGR2 EHMT1 EIF2AK3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 EIF4A3 ELAC2 ELMO2 ELN ELOVL4 ELP2 EMC1 EMG1 EML1 ENTPD1 EOGT EP300 EPB41L1 EPCAM EPG5 EPRS ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERLIN2 ERMARD ESCO2 ESS2 ETHE1 EVC EVC2 EXOSC2 EXOSC3 EXOSC8 EXOSC9 EXT1 EXT2 EXTL3 EYA1 EYS EZH2 FA2H FAM111A FAM126A FAM161A FAM20C FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FARSB FAS FASTKD2 FAT4 FBN1 FBN2 FBXL4 FBXO11 FBXO31 FDX2 FGD1 FGD4 FGF12 FGF14 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIBP FIG4 FKBP14 FKRP FKTN FLCN FLI1 FLII FLNA FLNB FLRT1 FLVCR1 FLVCR2 FMN2 FMR1 FOLR1 FOS FOXE1 FOXE3 FOXG1 FOXH1 FOXI1 FOXP1 FOXP2 FOXRED1 FRA16E FRAS1 FREM2 FRG1 FRMD4A FRMPD4 FRRS1L FSCN2 FTCD FTL FTO FTSJ1 FUCA1 FUS FUT8 FZD2 G6PC3 GABBR2 GABRA1 GABRB1 GABRB2 GABRB3 GABRD GABRG2 GAD1 GALC GALE GALT GAMT GAN GAS1 GATA1 GATA4 GATA6 GATAD2B GATM GBA GBA2 GBE1 GCDH GCH1 GCK GCSH GDAP1 GDF6 GDI1 GDNF GEMIN4 GFAP GFER GFM1 GFPT1 GGT1 GHR GJA1 GJA5 GJA8 GJB1 GJB2 GJB3 GJB4 GJB6 GJC2 GK GLA GLB1 GLDC GLI1 GLI2 GLI3 GLIS3 GLRA1 GLRB GLRX5 GLUD1 GLUL GLYCTK GM2A GMNN GMPPA GMPPB GNAI3 GNAO1 GNAQ GNAS GNB1 GNB5 GNE GNPAT GNPTAB GNPTG GNS GORAB GP1BB GPAA1 GPC3 GPC4 GPC6 GPHN GPI GPR161 GPR88 GPSM2 GPT2 GRIA3 GRIA4 GRID2 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRIP1 GRM1 GRN GSS GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTPBP2 GTPBP3 GUCA1B GUCY2D GUF1 GUSB GYS2 H19 HAAO HACD1 HACE1 HADH HADHA HADHB HAL HARS HAX1 HBA1 HBA2 HCCS HCFC1 HCN1 HDAC4 HDAC6 HDAC8 HECW2 HELLS HEPACAM HERC1 HERC2 HES7 HESX1 HGSNAT HHAT HIBCH HIKESHI HINT1 HIRA HIST1H1E HIVEP2 HLA-B HLCS HMGA2 HMGB3 HMGCL HNF1A HNF1B HNF4A HNMT HNRNPA1 HNRNPA2B1 HNRNPH2 HNRNPK HNRNPU HOXA1 HOXB1 HPD HPRT1 HRAS HSD17B10 HSD17B4 HSPA9 HSPD1 HSPG2 HTT HUWE1 HYLS1 HYMAI IARS IARS2 IBA57 IDH2 IDH3B IDS IDUA IER3IP1 IFIH1 IFT140 IFT172 IFT27 IFT52 IFT74 IFT88 IGBP1 IGF1 IGF1R IGF2 IKBKG IL10 IL12A IL12A-AS1 IL1RAPL1 IL23R IMPA1 IMPDH1 IMPG2 INPP5E INPP5K INS INSR INTU INVS IPW IQCB1 IQSEC2 IRF2BPL IRF6 IRX5 ISCA1 ISCA2 ITCH ITGA7 ITGB6 ITPA ITPR1 IVD IYD JAG1 JAM3 JMJD1C KANK1 KANSL1 KARS KAT6A KAT6B KATNB1 KBTBD13 KCNA1 KCNA2 KCNA4 KCNAB2 KCNB1 KCNC3 KCNE5 KCNH1 KCNJ1 KCNJ10 KCNJ11 KCNJ13 KCNJ2 KCNJ6 KCNJ8 KCNK9 KCNMA1 KCNQ1OT1 KCNQ2 KCNQ5 KCNT1 KCNT2 KCTD7 KDM1A KDM5B KDM5C KDM6A KDSR KIAA0556 KIAA0586 KIAA0753 KIAA1109 KIAA1549 KIDINS220 KIF11 KIF14 KIF1A KIF1BP KIF1C KIF22 KIF2A KIF4A KIF5A KIF5C KIF7 KIT KIZ KLC2 KLF13 KLHL15 KLHL40 KLHL41 KLHL7 KLLN KLRC4 KMT2A KMT2B KMT2C KMT2D KMT5B KNL1 KPTN KRAS KRT81 KRT83 KRT86 KY KYNU L1CAM L2HGDH LAGE3 LAMA1 LAMA2 LAMB1 LAMB2 LAMC3 LAMP2 LARGE1 LARP7 LARS LAS1L LBR LCA5 LEMD3 LETM1 LFNG LHX1 LHX3 LHX4 LIAS LIG4 LIMK1 LINGO1 LINS1 LIPA LIPT1 LIPT2 LMAN2L LMBR1 LMBRD1 LMNA LMNB1 LMNB2 LMOD3 LNPK LONP1 LRAT LRP2 LRP4 LRP5 LRPPRC LTBP2 LTBP4 LTC4S LYRM7 LYST LZTFL1 MAB21L2 MAD2L2 MAF MAFB MAG MAGEL2 MAK MAN1B1 MAN2B1 MANBA MAOA MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPK10 MAPRE2 MAPT MARS MARS2 MASP1 MAST1 MAT1A MBD5 MBOAT7 MBTPS2 MCCC1 MCCC2 MCM3AP MCM4 MCOLN1 MCPH1 MCTP2 MDH2 MECP2 MECR MED12 MED13L MED17 MED23 MED25 MEF2C MEFV MEGF10 MEGF8 MEIS2 MERTK MESP2 METTL23 MFF MFN2 MFSD2A MFSD8 MGAT2 MGME1 MGP MICOS13 MICU1 MID1 MID2 MIPEP MIR17HG MKKS MKRN3 MKRN3-AS1 MKS1 MLC1 MLH1 MLH3 MLXIPL MLYCD MMAA MMAB MMACHC MMADHC MMP13 MMUT MNX1 MOCS1 MOGS MORC2 MPC1 MPDU1 MPDZ MPLKIP MPV17 MPZ MRE11 MRPL3 MRPS2 MRPS34 MSH2 MSH6 MSMO1 MSTO1 MTFMT MTHFD1 MTHFR MTMR14 MTMR2 MTO1 MTOR MTPAP MTR MTRR MUSK MVK MYCN MYF6 MYH3 MYH7 MYL2 MYMK MYO5A MYO5B MYO7A MYO9A MYPN MYRF MYT1L NAA10 NAA15 NACC1 NADK2 NAGA NAGLU NALCN NANS NARS2 NAT8L NAXE NBN NCAPD2 NCAPD3 ND1 ND4 ND5 ND6 NDE1 NDN NDP NDST1 NDUFA1 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF5 NDUFAF6 NDUFB11 NDUFB3 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NECTIN1 NEDD4L NEFL NEK1 NEK2 NELFA NEU1 NEXMIF NF1 NFE2L2 NFIA NFIX NFKB2 NFU1 NGF NGLY1 NHLRC2 NHP2 NHS NIN NIPBL NKX2-1 NKX2-5 NKX6-2 NLGN4X NLRC4 NLRP3 NMNAT1 NODAL NONO NOP10 NOTCH1 NOTCH3 NPAP1 NPC1 NPC2 NPHP1 NPHP3 NPHP4 NR2E3 NR2F1 NRAS NRL NRTN NRXN1 NSD1 NSD2 NSDHL NSMCE3 NSUN2 NT5C2 NTN1 NTNG1 NTRK1 NTRK2 NUBPL NUP107 NUP62 NUS1 NXN OCLN OCRL OFD1 OGDH OGT OPA1 OPA3 OPHN1 ORC1 ORC4 ORC6 OSGEP OTC OTUD6B OTX2 P3H1 P4HB PACS1 PACS2 PAFAH1B1 PAH PAK1 PAK3 PALB2 PAM16 PANK2 PARN PAX1 PAX2 PAX3 PAX6 PAX8 PBX1 PC PCARE PCBD1 PCCA PCCB PCDH12 PCDH15 PCDH19 PCK1 PCLO PCNA PCNT PCYT1A PDE10A PDE4D PDE6A PDE6B PDE6D PDE6G PDHA1 PDHX PDP1 PDSS1 PDX1 PEPD PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PGK1 PGM3 PHACTR1 PHC1 PHF21A PHF6 PHF8 PHGDH PHIP PHKA2 PHKG2 PHOX2B PHYH PIBF1 PIEZO1 PIEZO2 PIGA PIGC PIGG PIGH PIGL PIGN PIGO PIGP PIGS PIGT PIGV PIGW PIGY PIK3CA PIK3R1 PIK3R2 PITX3 PLA2G6 PLAA PLAGL1 PLCB1 PLCB4 PLEC PLEKHG2 PLG PLK4 PLOD1 PLOD3 PLP1 PLPBP PLXND1 PMM2 PMP22 PMPCA PMPCB PMS1 PMS2 PNKP PNP PNPLA2 PNPLA6 PNPO PNPT1 POC1A PODXL POGZ POLA1 POLG POLG2 POLR1C POLR1D POLR3A POLR3B POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU1F1 PPARG PPM1B PPM1D PPP1CB PPP1R15B PPP2R1A PPP2R5D PPP3CA PPT1 PQBP1 PRCD PRDM16 PRDX1 PREPL PRF1 PRICKLE1 PRKAR1A PRKAR1B PRKD1 PRKRA PRMT7 PRNP PROC PRODH PROKR2 PROM1 PROP1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRRT2 PRSS12 PRUNE1 PRX PSAP PSAT1 PSEN1 PSEN2 PSMB8 PSMD12 PSPH PTCH1 PTCH2 PTCHD1 PTDSS1 PTEN PTPN11 PTPRQ PTRH2 PTS PUF60 PUM1 PURA PUS1 PUS3 PWAR1 PWRN1 PYCR1 PYCR2 QARS QDPR QRICH1 RAB11B RAB18 RAB23 RAB39B RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAD50 RAD51 RAD51C RAF1 RAI1 RANBP2 RAPSN RARB RARS RARS2 RB1 RBBP8 RBM10 RBM28 RBM8A RBMX RBP3 RBPJ RD3 RDH11 RDH12 RECQL4 REEP6 RELN REPS1 RERE RET REV3L RFC2 RFT1 RFWD3 RGR RHO RHOBTB2 RIPK4 RIPPLY2 RIT1 RLBP1 RLIM RMND1 RMRP RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF125 RNF135 RNF168 RNF213 RNU12 RNU4ATAC ROBO1 ROGDI ROM1 ROR2 RORA RP1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPIA RPL10 RPL35A RPS19 RPS23 RPS28 RPS6KA3 RREB1 RRM2B RSPRY1 RTEL1 RTN4IP1 RTTN RUBCN RUSC2 RXYLT1 RYR1 SACS SAG SALL1 SAMD12 SAMD9 SAMHD1 SAR1B SARS SASS6 SATB2 SBDS SBF1 SC5D SCAPER SCARB2 SCN11A SCN1A SCN1B SCN2A SCN3A SCN4A SCN8A SCN9A SCO1 SCO2 SCYL1 SDCCAG8 SDHA SDHAF1 SDHB SDHC SDHD SEC23A SEC23B SEC24C SEC24D SELENON SEMA3C SEMA3D SEMA3E SEMA4A SEMA5A SEPSECS SERAC1 SET SETBP1 SETD2 SETD5 SF3B4 SFXN4 SGCB SGPL1 SGSH SH2B1 SH3PXD2B SH3TC2 SHANK3 SHH SHOC2 SHROOM4 SIK1 SIK3 SIL1 SIM1 SIN3A SIX3 SIX6 SKI SLC12A1 SLC12A5 SLC12A6 SLC13A5 SLC16A1 SLC16A2 SLC17A5 SLC18A2 SLC18A3 SLC19A2 SLC19A3 SLC1A1 SLC1A2 SLC1A3 SLC1A4 SLC25A1 SLC25A12 SLC25A15 SLC25A19 SLC25A20 SLC25A22 SLC25A24 SLC25A26 SLC25A46 SLC26A4 SLC29A3 SLC2A1 SLC2A10 SLC2A2 SLC2A3 SLC30A9 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC36A2 SLC39A14 SLC39A8 SLC3A1 SLC45A1 SLC46A1 SLC4A4 SLC52A2 SLC52A3 SLC5A5 SLC5A7 SLC6A1 SLC6A17 SLC6A19 SLC6A20 SLC6A3 SLC6A5 SLC6A8 SLC6A9 SLC7A14 SLC9A1 SLC9A6 SLITRK6 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCE1 SMC1A SMC3 SMG9 SMO SMOC1 SMPD1 SMS SNAI2 SNAP25 SNAP29 SNIP1 SNORD115-1 SNORD116-1 SNORD118 SNRNP200 SNRPB SNRPN SNX14 SOBP SON SORL1 SOS2 SOST SOX10 SOX11 SOX18 SOX2 SOX3 SOX5 SP7 SPARC SPART SPAST SPATA5 SPATA7 SPECC1L SPEG SPG11 SPG21 SPG7 SPINK5 SPR SPRED1 SPTAN1 SPTBN2 SPTBN4 SQSTM1 SRCAP SRD5A3 SRP54 SRPX2 SRY SSR4 ST3GAL3 ST3GAL5 STAC3 STAG1 STAMBP STAT3 STAT4 STIL STIM1 STRA6 STRADA STS STT3A STT3B STUB1 STX11 STX1B STX3 STXBP1 SUCLA2 SUCLG1 SUFU SUMF1 SUOX SURF1 SUZ12 SYN1 SYNGAP1 SYNJ1 SYP SYT1 SYT14 SYT2 SZT2 TAB2 TAC3 TACO1 TAF1 TAF13 TAF2 TAF6 TALDO1 TANGO2 TARDBP TARS2 TAT TAZ TBC1D20 TBC1D23 TBC1D24 TBC1D7 TBCD TBCE TBCK TBK1 TBL1XR1 TBL2 TBR1 TBX1 TBX2 TBX4 TCF12 TCF4 TCN2 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TDP2 TECPR2 TECR TELO2 TENT5A TERC TERT TFAP2A TFAP2B TG TGDS TGFB1 TGFB3 TGFBR1 TGFBR2 TGIF1 TGM6 TH THOC2 THOC6 THRB TIMM50 TIMMDC1 TINF2 TK2 TKT TLK2 TLR4 TMCO1 TMEM106B TMEM107 TMEM138 TMEM165 TMEM199 TMEM216 TMEM231 TMEM237 TMEM240 TMEM67 TMEM70 TMEM94 TMPRSS6 TMTC3 TNFRSF11A TNFRSF11B TNIK TNNT1 TNPO3 TOE1 TOMM40 TOPORS TP53 TP53RK TP63 TPI1 TPK1 TPM2 TPM3 TPO TPP1 TPP2 TPRKB TPRN TRAF3IP1 TRAF7 TRAIP TRAK1 TRAPPC11 TRAPPC12 TRAPPC6B TRAPPC9 TREM2 TREX1 TRH TRHR TRIM32 TRIO TRIP11 TRIP12 TRIP13 TRIP4 TRIT1 TRMT1 TRMT10A TRMT5 TRMU TRNE TRNF TRNH TRNK TRNL1 TRNL2 TRNN TRNQ TRNS1 TRNS2 TRNT TRNT1 TRNW TRPS1 TRPV4 TRPV6 TSC1 TSC2 TSEN15 TSEN54 TSFM TSHB TSHR TSPAN7 TTC19 TTC8 TTI2 TTN TTPA TUB TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBB4A TUBG1 TUBGCP4 TUBGCP6 TUFM TULP1 TUSC3 TWIST1 TWIST2 TWNK TXN2 TYMP TYROBP UBA5 UBAC2 UBE2A UBE2T UBE3A UBE3B UBR1 UBTF UCP2 UFC1 UFD1 UFM1 UGT1A1 UMPS UNC80 UPB1 UPF3B UQCC2 UQCC3 UQCRQ UROC1 USB1 USH1C USH1G USH2A USP27X USP8 USP9X VAC14 VAMP1 VARS VARS2 VAX1 VCP VDR VIPAS39 VLDLR VMA21 VPS11 VPS13A VPS13B VPS13D VPS33A VPS33B VPS37A VPS45 VPS53 VRK1 VWA3B WAC WARS2 WAS WASHC4 WASHC5 WDFY3 WDPCP WDR11 WDR19 WDR26 WDR34 WDR4 WDR45 WDR45B WDR48 WDR62 WDR73 WDR81 WFS1 WHCR WIPF1 WNT1 WNT5A WRAP53 WT1 WWOX XPA XPC XPNPEP3 XRCC2 XRCC4 XYLT1 XYLT2 YAP1 YARS2 YME1L1 YWHAE YWHAG YY1 YY1AP1 ZBTB16 ZBTB18 ZBTB20 ZBTB24 ZC3H14 ZC4H2 ZDHHC15 ZDHHC9 ZEB2 ZFP57 ZFR ZFYVE26 ZIC1 ZIC2 ZMYND11 ZNF148 ZNF335 ZNF408 ZNF41 ZNF423 ZNF513 ZNF592 ZNF711 ZNF81 ZNHIT3 ZSWIM6

Diseases (2473) :458803 869 231550 442835 238700 268700 791 1020 99886 240800 256450 966 275630 435804 203750 3322 617762 2971 264470 777 300387 2020 2573 79107 243310 2995 614583 337 135100 820 2136 51 225154 615010 615286 606854 615752 615873 618170 86814 607876 46 103050 309548 616368 93 208400 90308 528 98914 618276 88618 613752 615829 220493 475 608629 2850 101078 238329 300816 310490 65 201 744 615109 615937 35664 219150 601162 616586 816 270200 239510 22 271980 3006 266100 611881 229600 607906 608776 64 242100 306542 613456 136760 52022 613451 2780 300990 605899 251066 148050 613728 230740 171851 609313 306511 613647 821 617169 324703 125800 617164 207800 100300 974 615244 617523 1465 614607 135900 617808 612291 110 600151 617622 3157 309256 309263 309271 250100 401815 567 452 3175 308350 300215 3451 300419 309510 333 228000 99803 617796 207900 23 314911 271900 608716 215700 617190 615485 3197 496790 617183 104290 602481 614820 614053 300972 300423 219200 278250 618012 79499 3473 616455 198 565 309400 905 1766 615268 808 210600 847 301040 615834 304800 899 93359 709 101006 617120 904 209900 615981 615982 615984 615986 248600 614923 617101 617237 618092 568 2712 309800 261330 123 256000 124000 262000 893 210900 614299 617755 54595 115150 1340 613707 163950 613706 618056 84 617883 616202 617333 615924 602522 1052 618221 1777 613559 615035 117 2785 259730 97 617106 601005 618087 614256 616457 617798 617799 1425 251450 300422 394 236200 2318 612285 235510 7 236600 1308 616737 2554 2268 616910 211380 612580 231169 617694 617360 3095 300672 95496 280200 613823 615703 615991 610188 614464 614728 615862 616230 616579 529965 617682 1942 2382 615369 617159 138 214800 602541 614961 600513 199318 612001 601776 617600 3463 617090 272440 3255 613090 204200 256731 1947 600143 610003 411493 616271 617854 616418 610042 220110 436271 615643 613612 614576 615328 611182 85198 90653 2500 175780 616351 293843 248340 265050 98915 607426 139485 612016 550 2556 2754 277170 352582 617976 237300 614499 180849 272430 617062 615636 308 617915 615502 604168 615075 351 256540 300354 250410 616127 301013 250800 143880 909 213700 320411 600721 857 613818 3464 241080 238722 617542 601390 300067 910 320380 615033 300536 613398 457260 300958 2919 174300 819 617171 615828 604364 192430 35107 818 270400 617836 617804 136630 2849 305000 2394 300850 2311 98896 615807 66634 610198 811 260400 391411 615528 616346 615879 242860 86309 608093 618027 616901 616311 274270 222748 573 95716 274900 3107 180700 239 614563 289 614924 617330 300960 388 3447 617561 1520 79113 96147 1667 603896 300148 3019 194050 617270 616875 615683 614257 144 1493 617951 220295 601675 278730 616390 610651 278760 214150 133540 278800 216400 3267 209951 611225 3103 268300 51188 602473 225500 502 617425 2792 277590 171629 612319 610532 227650 3412 227645 227646 600901 616154 613658 615546 2462 618089 615979 617166 2396 2645 147950 101600 87 93259 93260 101200 207410 123500 101400 609579 35098 35099 429 610474 146000 602849 616482 606612 253800 851 2308 90652 305620 304120 503 150250 88628 609033 616193 613068 1226 88632 261144 613454 705 274600 613670 2052 219000 158900 616819 300983 616981 229100 157846 230000 618005 617904 617903 33069 615744 617153 617829 617113 1606 603513 245200 230350 79239 230400 612736 643 256850 190685 2255 612718 614409 206583 25 602485 300849 203450 231950 633 2710 164200 317 612474 477 307030 324 230600 230500 672 401866 606762 220120 309246 616835 615510 363623 615351 617493 624 3205 185300 79443 79444 103580 612462 612463 488613 616973 617173 617182 222765 252600 252940 231070 617810 373 93329 613470 616939 477673 616281 300699 617864 611092 614254 245570 616139 613970 324262 614831 266130 616395 617988 204000 584 253220 617660 464282 616756 609975 5 2157 98791 309541 615871 1001 3459 300882 617268 616911 613925 613926 617011 615516 176270 226307 252930 1422 250620 324442 617537 616977 94063 300915 324575 93111 261265 263455 616739 52430 300986 616580 617391 300322 3071 218040 163200 2612 85295 300438 800 255800 399 617435 300706 617093 615330 93473 607014 615846 615630 615996 617119 52055 300472 608747 73273 270450 464 308300 617323 213300 559 617404 217377 309530 618088 1300 611174 617613 613204 1065 206700 274800 118450 612900 610443 616268 3047 85201 37612 616366 605259 241200 612780 170390 612292 439218 613720 617601 614959 615005 617771 263516 611726 147920 300867 617822 521390 617296 2526 617914 614255 66629 609460 300923 617235 200990 2884 300982 319182 605130 617768 617788 604321 615637 496689 79155 236800 2466 1497 304100 303350 307000 236792 301006 607855 258 615191 34587 300257 613154 309585 169400 221750 235 99812 618103 614340 2378 79284 212112 79087 600373 2143 615838 167 352723 214500 601088 459056 615547 248500 118 248510 300615 638 2505 616734 250850 156200 617188 2273 308205 210200 210210 578 252650 251200 778 300260 312750 776 305450 300895 309520 614249 65759 261190 600987 615942 352447 615084 67047 615673 300928 614326 2473 605231 615990 617121 277400 79283 277410 79312 289916 252150 615219 234050 617950 617664 607341 616638 250940 29 164280 193700 437572 1358 254940 33445 79476 214450 616521 617787 617393 79279 79281 609241 252920 610442 617186 251260 649 616116 618239 618226 618228 252010 618224 618225 618229 3253 617201 812 256550 85277 300912 139474 162200 601321 613735 561 602535 614753 224230 613987 627 122470 527497 300495 1451 300967 136 257220 607625 220497 615722 614325 228415 117550 300831 611091 320396 613162 642 256800 613886 271930 617831 1507 534 309000 2750 300804 311200 300997 210000 137831 300486 224690 617729 311250 615009 618067 607432 2209 261600 300558 120330 896 148820 137902 194072 266150 35 300088 2637 210720 616922 950 280651 614613 312170 245349 608782 742 3220 44 266510 614866 202370 214110 614863 773 614879 215100 615802 615716 300653 615816 127 300263 79351 601815 617991 2461 248700 617816 618010 3474 280000 2059 614080 614749 615398 239300 616025 616809 60040 615108 602501 610623 35069 256600 521426 617527 2518 616171 99015 312080 312920 617290 1170 213200 617954 613179 2377 245800 275400 614813 616364 301220 726 298 203700 616494 447896 264090 613151 86812 609308 613156 305600 613038 617450 2701 616362 616355 617711 256730 93946 93947 309500 101800 210571 617157 280397 239500 301835 1187 300661 98811 249500 249900 617516 614023 377 77301 109400 2658 151050 2969 109 605309 616263 13 617931 616158 2598 600462 614438 226 261630 201000 2379 300271 311510 1387 600118 617751 613078 617244 611553 182290 88619 2470 615524 438114 616140 1587 251255 612079 274000 300238 218600 268400 618004 1234 615355 300978 607095 616260 420741 1824 2636 210710 1946 226750 268310 618060 204100 611560 300998 105650 303600 192 300844 612075 616723 404499 615705 617773 270550 601068 246700 616402 612313 615284 46059 607330 617350 99735 614306 614558 615993 3208 252011 614739 618106 616078 269150 616831 615761 617575 252900 261197 261222 48652 147250 607721 248800 94065 613406 157170 206900 182212 601678 616645 218000 1496 616095 604369 222730 617105 616657 238970 1782 53583 71277 606777 608885 3342 208050 617595 603585 615553 242600 617013 229050 604278 97229 274400 616421 2116 52503 300352 85278 221200 2588 139210 3051 601358 614609 614608 616938 300590 610759 1553 206920 257200 309583 66631 1393 117650 209850 500150 617140 1513 163746 609136 611584 615866 77298 313892 616803 101000 100985 182601 145410 2822 604360 99013 634 70594 612716 611431 2044 612379 370927 300934 611090 370938 609056 255995 617635 612703 611087 281090 370921 615596 370924 615597 612164 245400 585 272200 85294 300491 612621 300802 284271 228410 300966 615599 617126 616878 28378 276600 352596 220500 615338 248000 617193 496756 617207 241410 2323 616900 616944 602342 1617 1727 188400 2896 275350 154500 2753 614815 404493 616949 320385 614020 127550 274700 609192 610168 300957 613680 254875 617044 618050 1394 213980 617964 617562 608091 98773 607454 610688 209981 617255 617028 1896 604292 204500 618201 369847 615356 617669 613192 2770 275120 617061 617752 617873 616033 805 191100 613254 617026 609152 615985 615541 96 156610 610031 300570 600638 612438 251270 610678 611093 209885 271245 300860 238446 2707 2315 243800 617672 618076 617899 79234 613161 300676 300984 401795 300919 300968 617054 224050 466934 616683 2388 193 216550 607596 616948 617710 906 615817 617616 329284 300894 604317 83472 251300 222300 614322 278700 613159 615777 85194 120433 1473 617302 617665 617557 79094 602531 612447 36367 612337 3042 259050 614069 617125 300799 100996 270700 609637 617260 300803 260565 603671 1827 617865 616339 613163 2802 99885 276575 606176 1517 965 239850 614857 98907 201450 201470 610006 614055 616553 614559 617308 607944 614265 86818 97240 97244 171430 171433 171439 161800 607371 137754 609924 617933 3449 277600 225410 231050 606703 617008 614300 313772 212350 366 203650 260600 618006 176920 447760 616603 614105 79327 608540 613661 607143 324422 300884 353327 616228 79321 601110 79320 603147 203800 607225 228390 300373 615809 615493 2512 616681 2332 261250 284289 85329 85335 304340 608233 617276 280763 614066 613744 612936 614067 79665 261584 223 618185 608097 90 300607 251056 618161 615926 302950 617020 2508 300004 616867 314918 97297 605039 618011 94122 601238 617584 250977 608688 100984 182600 618314 71517 124200 314978 302500 618120 644 551500 2834 357074 617403 604273 309580 276238 276241 276244 94147 67046 250950 615181 75496 615349 245600 261540 609195 607091 130070 615287 300475 300166 363454 618291 615290 169186 255200 125 261295 139471 607932 608022 616849 529962 500 614498 609054 300659 363400 269700 79241 253260 300755 257300 218340 320375 614298 615948 617406 100069 275864 275872 105550 615751 613227 141500 369929 615474 618095 163693 314647 614756 616672 163937 300749 613563 608443 216360 1454 616828 616816 300963 617507 615938 618147 211750 617063 613805 1299 616342 604804 616080 614732 614226 608393 616781 617761 614673 3156 614845 614114 618205 600795 233 608930 608931 263463 614869 300114 300886 615803 301008 34527 617929 611209 435934 617395 263501 618150 3450 616470 616720 156550 286 607595 614483 158810 254090 617800 616733 614654 615401 255241 612714 309801 300887 48818 614615 194190 617917 607417 370980 614643 397715 1775 48431 618174 281 610127 85293 618141 453521 264700 615030 616538 615281 611105 157600 616459 2148 608643 614507 271665 602398 613839 204750 267000 245348 246900 310200 273 160900 616113 617384 445062 614388 160150 618292 614219 615859 617604 614750 615042 263494 293948 614228 158600 614104 302960 616277 616460 137888 277580 616409 616393 304110 610536 611718 605253 145900 610253 226980 85282 268305 615440 614457 600348 401810 613684 242840 610758 610756 610965 616570 75857 615544 269000 617763 614678 616081 618065 616682 166780 602361 85163 259775 609053 614083 614946 616006 284979 608328 121050 615471 251900 305400 609311 98764 609307 613001 615465 166250 794 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Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.